Chapter 03: Hereditary Influences on Health Promotion of the Child and
Family
1. Which genetic term refers to a person who possesses one copy of an
affected gene and one copy of an unaffected gene and is clinically
unaffected?
a.Allele
b.Carrier
c.Pedigree
d.Multifactorial: ANS: B
An individual who is a carrier is asymptomatic but possesses a genetic
alteration, either in the form of a gene or chromosome change. Alleles
are alternative expres- sions of genes at a different locus. A pedigree is
a diagram that describes family relationships, gender, disease, status,
or other relevant information about a family. Multifactorial describes a
complex interaction of both genetic and environmental factors that
produce an effect on the individual.
2. Which genetic term refers to the transfer of all or part of a chromosome
to a different chromosome after chromosome breakage?
a. Trisomy
b.Monosomy
c. Translocation
d.Nondisjunction: ANS: C
Translocation is the transfer of all or part of a chromosome to a different
chromosome after chromosome breakage. It can be balanced, producing
no phenotypic effects, or unbalanced, producing severe or lethal effects.
Trisomy is an abnormal number of chromosomes caused by the
presence of an extra chromosome, which is added to a given
chromosome pair and results in a total of 47 chromosomes per cell.
Monosomy is an abnormal number of chromosomes whereby the
chromosome is represented by a single copy in a somatic cell.
Nondisjunction is the failure of homologous chromosomes or chromatids
to separate during mitosis or meiosis.
3. Which is a birth defect or disorder that occurs as a new case in a family
and is not inherited?
a.Sporadic
b.Polygenic
c.Monosomy
d.Association: ANS: A
Sporadic describes a birth defect previously unidentified in a family. It is
not inherited. Polygenic inheritance involves the inheritance of many
genes at separate loci whose combined effects produce a given
, Chapter 03: Hereditary Influences on Health Promotion of the Child and
Family
phenotype. Monosomy is an abnormal number of chromosomes
whereby the chromosome is represented by a single copy in a somatic
cell. A nonrandom cluster of malformations
, 4. The nurse is assessing a neonate who was born 1 hour ago to healthy
white parents in their early forties. Which finding should be most
suggestive of Down syndrome?
a.Hypertonia
b.Low-set ears
c.Micrognathia
d.Long, thin fingers and toes: ANS: B
Children with Down syndrome have low-set ears. Infants with Down
syndrome have hypotonia, not hypertonia. Micrognathia is common in
trisomy 16, not Down syndrome. Children with Down syndrome have
short hands with broad fingers.
5. Which abnormality is a common sex chromosome defect?
a.Down syndrome
b. Turner syndrome
c.Marfan syndrome
d.Hemophilia: ANS: B
Turner syndrome is caused by an absence of one of the X
chromosomes. Down syndrome is caused by trisomy 21 (three copies
rather than two copies of chromo- some 21). Marfan syndrome is a
connective tissue disorder inherited in an autosomal dominant pattern.
Hemophilia is a disorder of blood coagulation inherited in an
X-linked recessive pattern
6. Turner syndrome is suspected in an adolescent girl with short stature.
What causes this?
a.Absence of one of the X chromosomes
b.Presence of an incomplete Y chromosome
c.Precocious puberty in an otherwise healthy child
d.Excess production of both androgens and estrogens: ANS: A
Turner syndrome is caused by an absence of one of the X
chromosomes. Most girls who have this disorder have one X
chromosome missing from all cells. No Y chromosome is present in
individuals with Turner syndrome. These young women have 45 rather
than 46 chromosomes.
7. Which is a sex chromosome abnormality that is caused by the presence
of one or more additional X chromosomes in a male?
a. Turner
b. Triple X
c.Klinefelter
d. Trisomy 13: ANS: C
Family
1. Which genetic term refers to a person who possesses one copy of an
affected gene and one copy of an unaffected gene and is clinically
unaffected?
a.Allele
b.Carrier
c.Pedigree
d.Multifactorial: ANS: B
An individual who is a carrier is asymptomatic but possesses a genetic
alteration, either in the form of a gene or chromosome change. Alleles
are alternative expres- sions of genes at a different locus. A pedigree is
a diagram that describes family relationships, gender, disease, status,
or other relevant information about a family. Multifactorial describes a
complex interaction of both genetic and environmental factors that
produce an effect on the individual.
2. Which genetic term refers to the transfer of all or part of a chromosome
to a different chromosome after chromosome breakage?
a. Trisomy
b.Monosomy
c. Translocation
d.Nondisjunction: ANS: C
Translocation is the transfer of all or part of a chromosome to a different
chromosome after chromosome breakage. It can be balanced, producing
no phenotypic effects, or unbalanced, producing severe or lethal effects.
Trisomy is an abnormal number of chromosomes caused by the
presence of an extra chromosome, which is added to a given
chromosome pair and results in a total of 47 chromosomes per cell.
Monosomy is an abnormal number of chromosomes whereby the
chromosome is represented by a single copy in a somatic cell.
Nondisjunction is the failure of homologous chromosomes or chromatids
to separate during mitosis or meiosis.
3. Which is a birth defect or disorder that occurs as a new case in a family
and is not inherited?
a.Sporadic
b.Polygenic
c.Monosomy
d.Association: ANS: A
Sporadic describes a birth defect previously unidentified in a family. It is
not inherited. Polygenic inheritance involves the inheritance of many
genes at separate loci whose combined effects produce a given
, Chapter 03: Hereditary Influences on Health Promotion of the Child and
Family
phenotype. Monosomy is an abnormal number of chromosomes
whereby the chromosome is represented by a single copy in a somatic
cell. A nonrandom cluster of malformations
, 4. The nurse is assessing a neonate who was born 1 hour ago to healthy
white parents in their early forties. Which finding should be most
suggestive of Down syndrome?
a.Hypertonia
b.Low-set ears
c.Micrognathia
d.Long, thin fingers and toes: ANS: B
Children with Down syndrome have low-set ears. Infants with Down
syndrome have hypotonia, not hypertonia. Micrognathia is common in
trisomy 16, not Down syndrome. Children with Down syndrome have
short hands with broad fingers.
5. Which abnormality is a common sex chromosome defect?
a.Down syndrome
b. Turner syndrome
c.Marfan syndrome
d.Hemophilia: ANS: B
Turner syndrome is caused by an absence of one of the X
chromosomes. Down syndrome is caused by trisomy 21 (three copies
rather than two copies of chromo- some 21). Marfan syndrome is a
connective tissue disorder inherited in an autosomal dominant pattern.
Hemophilia is a disorder of blood coagulation inherited in an
X-linked recessive pattern
6. Turner syndrome is suspected in an adolescent girl with short stature.
What causes this?
a.Absence of one of the X chromosomes
b.Presence of an incomplete Y chromosome
c.Precocious puberty in an otherwise healthy child
d.Excess production of both androgens and estrogens: ANS: A
Turner syndrome is caused by an absence of one of the X
chromosomes. Most girls who have this disorder have one X
chromosome missing from all cells. No Y chromosome is present in
individuals with Turner syndrome. These young women have 45 rather
than 46 chromosomes.
7. Which is a sex chromosome abnormality that is caused by the presence
of one or more additional X chromosomes in a male?
a. Turner
b. Triple X
c.Klinefelter
d. Trisomy 13: ANS: C
